Incidental Mutation 'RF045:Lce1m'
| ID |
604991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lce1m
|
| Ensembl Gene |
ENSMUSG00000027912 |
| Gene Name |
late cornified envelope 1M |
| Synonyms |
1110059L13Rik, Sprrl10, Lce5a |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
RF045 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
92925117-92926367 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGCTGCC to TGCTGCCCCCGCCGCTGCC
at 92925599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029520]
[ENSMUST00000029521]
[ENSMUST00000107301]
[ENSMUST00000193944]
|
| AlphaFold |
Q9CR91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029520
|
| SMART Domains |
Protein: ENSMUSP00000029520
Gene: ENSMUSG00000027912
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LCE
|
9 |
96 |
5.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029521
|
| SMART Domains |
Protein: ENSMUSP00000029521
Gene: ENSMUSG00000027913
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107301
|
| SMART Domains |
Protein: ENSMUSP00000102922
Gene: ENSMUSG00000027913
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NICE-1
|
5 |
100 |
5.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193944
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGCCG |
19: 5,475,246 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Cdsn |
CAGC |
CAGCAGCTCTCAGTCAGGAAGTAGC |
17: 35,865,865 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ATGT |
ATGTGAGACACACTGCCCAGGGATGTGT |
9: 86,922,455 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGAA |
9: 86,922,500 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
C |
T |
4: 115,289,690 (GRCm39) |
H186Y |
probably benign |
Het |
| Dbr1 |
AAGAGGA |
AAGAGGAAGAGGA |
9: 99,465,724 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TACCTCGTT |
TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT |
9: 20,821,433 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
TTCTGTA |
T |
1: 43,776,352 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CCGGCT |
CCGGCTGCGGCT |
X: 71,313,651 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCAGGCT |
C |
X: 71,313,787 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
| Kcnq3 |
CCGCCAGCCGC |
CC |
15: 66,158,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGTCACAG |
1: 83,019,864 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACCACAGCCACAGCCACCACAGC |
CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,982 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCC |
CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
ACT |
ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT |
6: 125,156,199 (GRCm39) |
|
probably null |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,546,487 (GRCm39) |
R380L |
possibly damaging |
Het |
| Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Ptms |
CTCCTC |
CTCCTCCTC |
6: 124,891,413 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
CTGTT |
CTGTTGTT |
9: 66,012,204 (GRCm39) |
|
probably benign |
Het |
| Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
| Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lce1m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4342:Lce1m
|
UTSW |
3 |
92,925,554 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Lce1m
|
UTSW |
3 |
92,925,459 (GRCm39) |
unclassified |
probably benign |
|
|
FR4589:Lce1m
|
UTSW |
3 |
92,925,575 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Lce1m
|
UTSW |
3 |
92,925,455 (GRCm39) |
unclassified |
probably benign |
|
|
R1513:Lce1m
|
UTSW |
3 |
92,925,932 (GRCm39) |
unclassified |
probably benign |
|
|
R7621:Lce1m
|
UTSW |
3 |
92,925,177 (GRCm39) |
splice site |
probably null |
|
|
R7753:Lce1m
|
UTSW |
3 |
92,925,815 (GRCm39) |
missense |
unknown |
|
|
RF001:Lce1m
|
UTSW |
3 |
92,925,576 (GRCm39) |
unclassified |
probably benign |
|
|
RF001:Lce1m
|
UTSW |
3 |
92,925,459 (GRCm39) |
unclassified |
probably benign |
|
|
RF002:Lce1m
|
UTSW |
3 |
92,925,606 (GRCm39) |
unclassified |
probably benign |
|
|
RF002:Lce1m
|
UTSW |
3 |
92,925,590 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Lce1m
|
UTSW |
3 |
92,925,451 (GRCm39) |
unclassified |
probably benign |
|
|
RF009:Lce1m
|
UTSW |
3 |
92,925,438 (GRCm39) |
unclassified |
probably benign |
|
|
RF010:Lce1m
|
UTSW |
3 |
92,925,597 (GRCm39) |
unclassified |
probably benign |
|
|
RF015:Lce1m
|
UTSW |
3 |
92,925,455 (GRCm39) |
unclassified |
probably benign |
|
|
RF021:Lce1m
|
UTSW |
3 |
92,925,602 (GRCm39) |
unclassified |
probably benign |
|
|
RF021:Lce1m
|
UTSW |
3 |
92,925,576 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:Lce1m
|
UTSW |
3 |
92,925,587 (GRCm39) |
unclassified |
probably benign |
|
|
RF026:Lce1m
|
UTSW |
3 |
92,925,450 (GRCm39) |
unclassified |
probably benign |
|
|
RF026:Lce1m
|
UTSW |
3 |
92,925,445 (GRCm39) |
unclassified |
probably benign |
|
|
RF028:Lce1m
|
UTSW |
3 |
92,925,438 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Lce1m
|
UTSW |
3 |
92,925,651 (GRCm39) |
unclassified |
probably benign |
|
|
RF030:Lce1m
|
UTSW |
3 |
92,925,448 (GRCm39) |
unclassified |
probably benign |
|
|
RF037:Lce1m
|
UTSW |
3 |
92,925,607 (GRCm39) |
unclassified |
probably benign |
|
|
RF041:Lce1m
|
UTSW |
3 |
92,925,448 (GRCm39) |
unclassified |
probably benign |
|
|
RF042:Lce1m
|
UTSW |
3 |
92,925,446 (GRCm39) |
unclassified |
probably benign |
|
|
RF046:Lce1m
|
UTSW |
3 |
92,925,600 (GRCm39) |
unclassified |
probably benign |
|
|
RF054:Lce1m
|
UTSW |
3 |
92,925,605 (GRCm39) |
unclassified |
probably benign |
|
|
RF059:Lce1m
|
UTSW |
3 |
92,925,636 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTCTTCGTGGCCAGGTC -3'
(R):5'- AGATGTCCTGTCAGCAGAGC -3'
Sequencing Primer
(F):5'- GGTCAGCAGCAACCTCCAGAG -3'
(R):5'- GCTGTCTGAGCCACCACAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation